TTC3

Protein-coding gene in the species Homo sapiens
TTC3
Identifiers
AliasesTTC3, DCRR1, RNF105, TPRDIII, tetratricopeptide repeat domain 3
External IDsOMIM: 602259; MGI: 1276539; HomoloGene: 2487; GeneCards: TTC3; OMA:TTC3 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for TTC3
Genomic location for TTC3
Band21q22.13Start37,073,226 bp[1]
End37,203,112 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for TTC3
Genomic location for TTC3
Band16 C4|16 55.18 cMStart94,370,618 bp[2]
End94,469,343 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • entorhinal cortex

  • middle temporal gyrus

  • tibia

  • Brodmann area 23

  • postcentral gyrus

  • external globus pallidus

  • Pars compacta

  • lateral nuclear group of thalamus

  • pars reticulata

  • corpus epididymis
Top expressed in
  • substantia nigra

  • dorsomedial hypothalamic nucleus

  • paraventricular nucleus of hypothalamus

  • suprachiasmatic nucleus

  • ventromedial nucleus

  • pontine nuclei

  • Rostral migratory stream

  • arcuate nucleus

  • anterior amygdaloid area

  • dorsal tegmental nucleus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • protein binding
  • metal ion binding
  • ubiquitin-protein transferase activity
  • transferase activity
Cellular component
  • nucleolus
  • nucleus
  • cytosol
Biological process
  • protein K48-linked ubiquitination
  • protein ubiquitination
  • ubiquitin-dependent protein catabolic process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

7267

22129

Ensembl

ENSG00000182670

ENSMUSG00000040785

UniProt

P53804

O88196

RefSeq (mRNA)
NM_001001894
NM_003316
NM_001320703
NM_001320704
NM_001330681

NM_001330682
NM_001330683
NM_001353936
NM_001353937
NM_001353938

NM_009441

RefSeq (protein)
NP_001001894
NP_001307632
NP_001307633
NP_001317610
NP_001317611

NP_001317612
NP_003307
NP_001340865
NP_001340866
NP_001340867

XP_011249721.1
XP_011249722.1
XP_011249724.1
XP_011249725.1
XP_011249730.1

XP_011249731.1
XP_011249732.1
XP_011249733.1

Location (UCSC)Chr 21: 37.07 – 37.2 MbChr 16: 94.37 – 94.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tetratricopeptide repeat protein 3 is a protein that in humans is encoded by the TTC3 gene.[5][6]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182670 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040785 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Tsukahara F, Hattori M, Muraki T, Sakaki Y (Mar 1997). "Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2". J Biochem. 120 (4): 820–7. doi:10.1093/oxfordjournals.jbchem.a021485. PMID 8947847.
  6. ^ "Entrez Gene: TTC3 tetratricopeptide repeat domain 3".

Further reading

  • Ohira M, Ootsuyama A, Suzuki E, et al. (1996). "Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21". DNA Res. 3 (1): 9–16. doi:10.1093/dnares/3.1.9. PMID 8724848.
  • Eki T, Abe M, Naitou M, et al. (1997). "Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2". DNA Seq. 7 (3–4): 153–64. doi:10.3109/10425179709034031. PMID 9254009.
  • Dahmane N, Ghezala GA, Gosset P, et al. (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID 9503011.
  • Rachidi M, Lopes C, Gassanova S, et al. (2000). "Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development". Mech. Dev. 93 (1–2): 189–93. doi:10.1016/S0925-4773(00)00259-8. PMID 10781955. S2CID 1109717.
  • Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Berto G, Camera P, Fusco C, et al. (2007). "The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase". J. Cell Sci. 120 (Pt 11): 1859–67. doi:10.1242/jcs.000703. PMID 17488780.


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